ECPAS

Ecm29 proteasome adaptor and scaffold

Basic information

Region (hg38): 9:111360685-111484745

Previous symbols: [ "KIAA0368" ]

Links

ENSG00000136813 ∙ NCBI:23392 ∙ OMIM:616694 ∙ HGNC:29020 ∙ Uniprot:Q5VYK3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ECPAS gene.

• not_specified (174 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ECPAS gene is commonly pathogenic or not. These statistics are base on transcript: NM_001364929.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			157	3		160
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	157	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ECPAS	protein_coding	protein_coding	ENST00000259335	51	124054

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.12e-8	124650	0	16	124666	0.0000642

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.77	837	994	0.842	0.0000515	12937
Missense in Polyphen		191	318.68	0.59935		4020
Synonymous	-0.0169	364	364	1.00	0.0000192	3984
Loss of Function	8.72	15	117	0.129	0.00000660	1415

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000194	0.000188
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000465	0.0000464
European (Non-Finnish)	0.000109	0.0000973
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolyis (PubMed:15496406). Promotes proteasome dissociation under oxidative stress (By similarity). {ECO:0000250|UniProtKB:Q6PDI5, ECO:0000269|PubMed:15496406, ECO:0000269|PubMed:20682791}.

Recessive Scores

• pRec: 0.0843

Intolerance Scores

• rvis_EVS: -0.03
• rvis_percentile_EVS: 50.58

Haploinsufficiency Scores

• pHI: 0.363
• hipred: Y
• hipred_score: 0.698
• ghis: 0.533

Mouse Genome Informatics

• Gene name: Ecpas

Gene ontology

• Biological process: ubiquitin-dependent ERAD pathway;proteasome assembly
• Cellular component: proteasome complex;nucleus;early endosome;late endosome;multivesicular body;endoplasmic reticulum;endoplasmic reticulum-Golgi intermediate compartment;trans-Golgi network;centrosome;membrane;COPII-coated ER to Golgi transport vesicle;endocytic vesicle;cytoplasmic vesicle
• Molecular function: protein binding;protein-containing complex scaffold activity;proteasome binding